伴皮角样损害的先天性厚甲症

A case of pachyonychia congenita with cutaneous horn-like lesions

报告1例伴有皮角样损害的先天性厚甲症。患者男,17岁。因指、趾甲增厚伴全身出现泛发皮角样改变就诊。患者自3岁起逐渐出现20甲变黄、增厚、分离,伴发严重掌跖角化,以及多发性皮角样损害。患者角蛋白基因KRT6A、KRT6B、KRT16、KRT17以及连接蛋白基因GJB6编码区的全部外显子及其侧翼序列均未检测到致病性突变。

A case of pachyonychia congenita with cutaneous horn-like lesions is reported. The patient was a 17-year-old male presented with thickened nails, palmoplantar hyperkeratosis and multiple cutaneous horn-like lesions mainly on his face. All exons and their flanking sequences of the KRT6A, KRT6B, KRT16, KRT17, GJB6 gene were amplified by PCR and DNA sequencing,but no pathogenic mutation was found. The results might suggest that our patient was a new subtype of pachyonychia congenita, or there might be a mutation in keratin genes which we failed to detect.